Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133356324C>G , CM000671.2:g.133356324C>G | GRCh38 |
| NC_000009.10:g.135213000C>G | NCBI36 |
| NG_008477.1:g.5183G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.55-4G>C MANE Select | NP_003163.1:n.55-4G>C |
| ENST00000371974.8:c.55-4G>C MANE Select | ENSP00000361042.3:n.55-4G>C |
| NM_001280787.1:c.-222+76G>C | NP_001267716.1:n.-222+76G>C |
| NM_003172.3:c.55-4G>C | NP_003163.1:n.55-4G>C |
| ENST00000371974.7:c.55-4G>C | ENSP00000361042.3:n.55-4G>C |
| ENST00000463965.1:n.278-4G>C | |
| ENST00000615505.4:c.-222+76G>C | ENSP00000482067.1:n.-222+76G>C |